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Article

A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.

CEN case reports - 1 Nov 2020

Sakuraya Koji, Nozu Kandai, Oka Itsuhiro, Fujinaga Shuichiro, Nagano China, Ohtomo Yoshiyuki, Iijima Kazumoto

Abstract excerpt

Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger known as anion exchanger 1, have been reported as the sole genetic cause of autosomal dominant distal renal tubular acidosis (dRTA). This disorder is extremely rare and most patients show no clinical symptoms during childhood. Here, we report a case of an infant with early-onset autosomal dominant dRTA caused by SLC4A1 mutation p.Gly609Arg that is...

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Identifiers

PMID: 32632909
DOI: 10.1007/s13730-020-00500-x
PMCID: PMC7502083

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